CYP17A1基因纯合突变致17α-羟化酶/17,20-碳链裂解酶缺陷症的临床分析  

Clinical analysis of 17α-hydroxylase/17,20-lyase deficiency caused by homozygous mutation of CYP17A1 gene

作　　者：张建林[1] 张俊荣[1] 李晓丽 陆蓉[3] 苏敏[1] 张玉泉[1] ZHANG Jianlin;ZHANG Junrong;LI Xiaoli;LU Rong;SU Min;ZHANG Yuquan(Department of Gynecology and Obstetrics,Affiliated Hospital of Nantong University,Nantong,Jiangsu 226001,China;Department of Pathology,Affiliated Hospital of Nantong University,Nantong,Jiangsu 226001,China;Department of Imaging,Affiliated Hospital of Nantong University,Nantong,Jiangsu 226001,China)

机构地区：[1]南通大学附属医院妇产科,江苏南通226001 [2]南通大学附属医院病理科,江苏南通226001 [3]南通大学附属医院影像科,江苏南通226001

出　　处：《中华实用诊断与治疗杂志》2023年第7期733-738,共6页Journal of Chinese Practical Diagnosis and Therapy

基　　金：江苏省妇幼健康科研项目(F202053)。

摘　　要：目的 总结1例CYP17A1基因纯合突变致17α-羟化酶/17,20-碳链裂解酶缺陷症(17OHD)患者的临床病理特征。方法 回顾性分析1例CYP17A1基因纯合突变致17OHD患者的临床资料,包括临床表现、实验室检查、影像学检查、染色体核型分析、临床外显子组测序、手术治疗方法及术后组织病理检查结果。结果 患者临床表现为高血压、原发闭经、第二性征发育不良。实验室检查示皮质醇、血钾、睾酮、硫酸去氢表雄酮、雌二醇、肾素水平降低,促卵泡生成素、促肾上腺皮质激素水平升高,醛固酮、血管紧张素Ⅱ及肿瘤标志物正常。骨密度检测T值为-2.89,Z值为-3.1,提示骨质疏松。超声声像示双侧卵巢显示不清,未见子宫回声;左侧腹股沟区等回声,考虑睾丸组织可能,右侧腹股沟区未见明显包块;双侧肾上腺未见明显占位。全腹部及盆腔增强CT提示左侧肾上腺稍粗,双侧肾盂、输尿管轻度扩张积水。MRI增强扫描影像示未见子宫及双侧附件,盆腔少量积液,左侧腹股沟轻度脂肪疝。染色体核型为46,XY,外显子组测序发现CYP17A1基因第6号外显子329位密码子发生纯合突变,表现为c.985_987delinsAA(p.Y329Kfs*90)。入院第4天行腹腔镜探查术,见左右两侧精索血管及发育不良的性腺,镜下切除两侧性腺组织,术后组织病理示性腺为未发育成熟的睾丸生精小管。结论 对原发性闭经、高血压、第二性征不发育、性激素水平低下者应考虑17OHD可能,及时行染色体核型分析、基因检测明确诊断。Objective To summarize the clinicopathological characteristics of a patient with 17α-hydroxylase/17,20-lyase deficiency(17OHD) caused by homozygous mutation of CYP17A1 gene.Methods The clinical data of a patient with 17OHD caused by homozygous mutation of CYP17A1 gene were retrospectively analyzed,including clinical manifestations,laboratory examination,imaging examination,karyotyping analysis and clinical exome sequencing,surgical methods,and postoperative histopathological results.Results This patient presented with hypertension,primary amenorrhea,and poor development of secondary sexual characteristics.Laboratory results showed low levels of cortisol,serum potassium,testosterone,dehydroepigenone sulfate,estradiol and renin,high levels of follicle-stimulating hormone and adrenocorticotropin,and normal levels of aldosterone,angiotensin Ⅱ and tumor markers.Bone mineral density test showed that the T value was-2.89and the Z value was-3.1,suggesting osteoporosis.Ultrasonography displayed unclear bilateral ovarian and no uterine echo;left inguinal area iso-echo,which was considered as testicular tissue,and no obvious mass in the right inguinal area;no obvious space occupying lesion in the bilateral adrenal gland.Whole abdominal and pelvic enhanced CT scan showed a slight enlargement of the left adrenal gland,and a slight dilation of bilateral renal pelves and ureters with effusion.The enhanced MRI revealed a small amount of pelvic effusion with no evidence of uterus or bilateral adnexa,but a mild fat hernia in the left groin.Chromosome karyotype was 46,XY.Clinical exome sequencing results showed that homozygous mutation occurred at 329codon of exon 6of CYP17A1 gene,namely c.985_987delinsAA(p.Y329Kfs*90).The left and right spermatic vessels and the hypoplastic egonads were observed by laparoscopy by day4after admission.The bilateral egonads were resected by laparoscopy and the postoperative histopathological result showed immature spermatogenic tubules of testis.Conclusion The possibility of 17OHD should be consid

关 键 词：17α-羟化酶/17 20-碳链裂解酶缺乏症 先天性肾上腺皮质增生 染色体核型分析 临床外显子组测序 Sanger测序 

分 类 号：R586[医药卫生—内分泌]